Santoni, Federico Andrea

Top Publications

Top Publications Authored or Co-Authored by "Santoni, Federico Andrea"

• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

  American Journal of Human Genetics, Volume 107, No. 2, Year 2020, Citations 92
• Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

  Human Mutation, Volume 35, No. 10, Year 2014, Citations 79
• Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

  American Journal of Human Genetics, Volume 98, No. 4, Year 2016, Citations 76
• The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

  Genome Research, Volume 23, No. 9, Year 2013, Citations 72
• Biallelic variants in KIF14 cause intellectual disability with microcephaly

  European Journal of Human Genetics, Volume 26, No. 3, Year 2018, Citations 53